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| Gene | PTEN |
| Variant | L70R |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN L70R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L70R results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L70R |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87925557T>G |
| cDNA | c.209T>G |
| Protein | p.L70R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |